Results 91 to 100 of about 3,700 (196)
Frontiers in Cell and Developmental BiologyIntroductionBesides skeletal symptoms, dental abnormalities are a typical feature of the rare inherited disorder hypophosphatasia (HPP), which is caused by loss of function mutations in the ALPL gene (alkaline phosphatase, biomineralization associated ...
Jana Schiffmaier +14 more
doaj +1 more source
Hypophosphatasia and its role in bone pathology in adults
, 2021 Pathogenesis and symptoms of hypophosphatasia were reviewed, in particular in adults, as well as methods of diagnostics and ...
O. M. Lesnyak, K. E. Zotkina
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Severe cleidocranial dysplasia can mimic hypophosphatasia
, 2002 Cleidocranial dysplasia (OMIM 119600) is a skeletal dysplasia caused by mutations in the bone/cartilage specific osteoblast transcription factor RUNX2 gene.
Mornet, Etienne +4 more
core +1 more source
Adult-Onset Hypophosphatasia: Before and After Treatment with Asfotase Alfa
, 2019 Objective: To review the diagnosis and clinical course of a woman with hypophosphatasia who is being treated with newly approved enzyme replacement therapy, asfotase alfa. Method: Clinical and laboratory data are presented.
Perilli, Gretchen A, MD +4 more
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Hypophosphatasia Presenting as a Chronic Diffuse Pain Syndrome with Extra-Articular Calcifications
Hypophosphatasia is a rare genetic disease characterized by abnormal alkaline phosphatase activity and deficiency of bone and teeth mineralization. Hypophosphatasia is well known in pediatrics with typical presentations in children, but mild forms can ...
Elisa Docampo +5 more
core +1 more source
Adult hypophosphatasia presenting with recurrent acute joint pain
Endocrinology, Diabetes & Metabolism Case ReportsHypophosphatasia (HPP) is a genetic disorder due to pathological variants in ALPL, the gene encoding tissue-nonspecific alkaline phosphatase (ALP). HPP is typically associated with bone-related symptoms, such as bone deformity, fractures and bone pain in
Hayao Yoshida +11 more
doaj +1 more source
, 2018 Sasigarn A Bowden,1 Brian L Foster2 1Division of Endocrinology, Department of Pediatrics, Nationwide Children’s Hospital/The Ohio State University College of Medicine, Columbus, OH 43205, USA; 2Division of Biosciences, College of Dentistry, The ...
Bowden SA, Foster BL
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Childhood hypophosphatasia with myopathy: clinical report with recent update [PDF]
, 2012 Hypophosphatasia is a rare genetic disease with low tissue nonspeficic alkaline phosphatase activity (TNSALP), due to ALPL gene mutation. There are 6 clinical forms.
Silva, I +3 more
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A case of perinatal lethal form of hypophosphatasia; and review of literatures
, 2006 Hypophosphatasia is a rare inborn error of metabolism. The disease is characterised by skeletal mineralisation and dentition defects. Mutations have been found in the TNSALP gene in various forms of hypophosphatasia.
Chu, JWY +4 more
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